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Protein

Myotonin-protein kinase

Gene

DMPK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.6 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Cofactori

Enzyme regulationi

Coiled-coil-mediated oligomerization enhances the catalytic activity. Proteolytic processing of the C-terminus may release the protein from membranes and constitute a mean to regulate the enzyme. May be regulated by HSPB2, RAC1, RAF1 and G-protein second messengers.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei100ATP1
Active sitei195Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi77 – 85ATPPROSITE-ProRule annotation9

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • myosin phosphatase regulator activity Source: UniProtKB
  • protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS02657-MONOMER.
BRENDAi2.7.11.1. 2681.
ReactomeiR-HSA-5578775. Ion homeostasis.
SignaLinkiQ09013.
SIGNORiQ09013.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotonin-protein kinase (EC:2.7.11.1)
Short name:
MT-PK
Alternative name(s):
DM-kinase
Short name:
DMK
DM1 protein kinase
DMPK
Myotonic dystrophy protein kinase
Gene namesi
Name:DMPK
Synonyms:DM1PK, MDPK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:2933. DMPK.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 590CytoplasmicSequence analysisAdd BLAST590
Transmembranei591 – 611Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21
Topological domaini612 – 629LumenalSequence analysisAdd BLAST18

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membrane, Nucleus, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Dystrophia myotonica 1 (DM1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.2 Publications
Disease descriptionA muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
See also OMIM:160900

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi100K → A: Loss of kinase activity. 1 Publication1

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi1760.
MalaCardsiDMPK.
MIMi160900. phenotype.
OpenTargetsiENSG00000104936.
Orphaneti273. Steinert myotonic dystrophy.
PharmGKBiPA27380.

Chemistry databases

ChEMBLiCHEMBL5320.
GuidetoPHARMACOLOGYi1505.

Polymorphism and mutation databases

BioMutaiDMPK.
DMDMi363548519.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000859241 – 629Myotonin-protein kinaseAdd BLAST629

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei216Phosphoserine; by autocatalysisBy similarity1
Modified residuei228Phosphoserine; by autocatalysisBy similarity1
Modified residuei234Phosphothreonine; by autocatalysisBy similarity1

Post-translational modificationi

Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK.1 Publication
Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ09013.
PeptideAtlasiQ09013.
PRIDEiQ09013.
TopDownProteomicsiQ09013-11. [Q09013-11]

2D gel databases

REPRODUCTION-2DPAGEQ09013.

PTM databases

iPTMnetiQ09013.
PhosphoSitePlusiQ09013.

Expressioni

Tissue specificityi

Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.1 Publication

Gene expression databases

BgeeiENSG00000104936.
CleanExiHS_DMPK.
ExpressionAtlasiQ09013. baseline and differential.
GenevisibleiQ09013. HS.

Organism-specific databases

HPAiHPA007164.
HPA008905.

Interactioni

Subunit structurei

Homodimer; homodimerization stimulates the kinase activity. Interacts with HSPB2; may enhance DMPK kinase activity. Interacts with PLN; phosphorylates PLN. May interact with RAC1; may regulate DMPK kinase activity. Interacts with LMNA; may regulate nuclear envelope stability.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PLNP266784EBI-692774,EBI-692836

Protein-protein interaction databases

BioGridi108100. 14 interactors.
IntActiQ09013. 15 interactors.
MINTiMINT-195910.
STRINGi9606.ENSP00000345997.

Chemistry databases

BindingDBiQ09013.

Structurei

Secondary structure

1629
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi12 – 15Combined sources4
Turni17 – 19Combined sources3
Helixi22 – 37Combined sources16
Helixi40 – 43Combined sources4
Helixi45 – 64Combined sources20
Helixi68 – 70Combined sources3
Beta strandi71 – 79Combined sources9
Beta strandi84 – 90Combined sources7
Turni91 – 93Combined sources3
Beta strandi96 – 103Combined sources8
Helixi104 – 110Combined sources7
Helixi111 – 113Combined sources3
Helixi116 – 125Combined sources10
Turni128 – 130Combined sources3
Beta strandi134 – 139Combined sources6
Beta strandi141 – 148Combined sources8
Helixi156 – 163Combined sources8
Helixi169 – 188Combined sources20
Helixi198 – 200Combined sources3
Beta strandi201 – 203Combined sources3
Beta strandi209 – 211Combined sources3
Helixi235 – 237Combined sources3
Helixi240 – 247Combined sources8
Beta strandi253 – 255Combined sources3
Helixi258 – 273Combined sources16
Helixi283 – 291Combined sources9
Helixi293 – 296Combined sources4
Helixi308 – 315Combined sources8
Helixi321 – 323Combined sources3
Turni325 – 329Combined sources5
Helixi330 – 334Combined sources5
Helixi337 – 339Combined sources3
Beta strandi378 – 382Combined sources5
Turni385 – 387Combined sources3
Helixi398 – 400Combined sources3
Helixi412 – 414Combined sources3
Helixi468 – 528Combined sources61

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WT6X-ray1.60A/B/D460-537[»]
2VD5X-ray2.80A/B11-420[»]
ProteinModelPortaliQ09013.
SMRiQ09013.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ09013.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini71 – 339Protein kinasePROSITE-ProRule annotationAdd BLAST269
Domaini340 – 415AGC-kinase C-terminalAdd BLAST76

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili457 – 5362 PublicationsAdd BLAST80

Domaini

The coiled coil domain is required for homodimerization and regulates the enzymatic activity.

Sequence similaritiesi

Contains 1 AGC-kinase C-terminal domain.Curated
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IT50. Eukaryota.
ENOG410YFQZ. LUCA.
GeneTreeiENSGT00760000118994.
HOGENOMiHOG000233033.
HOVERGENiHBG107817.
InParanoidiQ09013.
KOiK08788.
OMAiFLQWVEP.
OrthoDBiEOG091G09EX.
TreeFamiTF105337.

Family and domain databases

InterProiIPR000961. AGC-kinase_C.
IPR011009. Kinase-like_dom.
IPR014930. Myotonic_dystrophy_kinase_coil.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF08826. DMPK_coil. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
ProDomiPD011252. Myotonic_dystrophy_kinase_coil. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00133. S_TK_X. 1 hit.
SM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51285. AGC_KINASE_CTER. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequences (12)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q09013-9) [UniParc]FASTAAdd to basket
Also known as: DMPK A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF
60 70 80 90 100
LQWAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK
110 120 130 140 150
IMNKWDMLKR GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY
160 170 180 190 200
YVGGDLLTLL SKFGERIPAE MARFYLAEIV MAIDSVHRLG YVHRDIKPDN
210 220 230 240 250
ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP EILQAVGGGP
260 270 280 290 300
GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP
310 320 330 340 350
LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS
360 370 380 390 400
VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF
410 420 430 440 450
VGYSYSCMAL RDSEVPGPTP MELEAEQLLE PHVQAPSLEP SVSPQDETAE
460 470 480 490 500
VAVPAAVPAA EAEAEVTLRE LQEALEEEVL TRQSLSREME AIRTDNQNFA
510 520 530 540 550
SQLREAEARN RDLEAHVRQL QERMELLQAE GATAVTGVPS PRATDPPSHL
560 570 580 590 600
DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS LLLFAVVLSR
610 620
AAALGCIGLV AHAGQLTAVW RRPGAARAP
Length:629
Mass (Da):69,385
Last modified:December 14, 2011 - v3
Checksum:i46783ED4AE65B493
GO
Isoform 2 (identifier: Q09013-11) [UniParc]FASTAAdd to basket
Also known as: DMPK B

The sequence of this isoform differs from the canonical sequence as follows:
     378-382: Missing.

Show »
Length:624
Mass (Da):69,028
Checksum:i7ECA31ED9A84E7E1
GO
Isoform 3 (identifier: Q09013-16) [UniParc]FASTAAdd to basket
Also known as: DMPK C

The sequence of this isoform differs from the canonical sequence as follows:
     550-629: LDGPPAVAVG...WRRPGAARAP → MAPRPWLWAS...AQEPPALPEP

Note: No experimental confirmation available.
Show »
Length:630
Mass (Da):69,950
Checksum:i52B2B388CD99AA2F
GO
Isoform 4 (identifier: Q09013-15) [UniParc]FASTAAdd to basket
Also known as: DMPK D

The sequence of this isoform differs from the canonical sequence as follows:
     378-382: Missing.
     550-629: LDGPPAVAVG...WRRPGAARAP → MAPRPWLWAS...AQEPPALPEP

Show »
Length:625
Mass (Da):69,592
Checksum:i10EA0187F4AD4B7C
GO
Isoform 5 (identifier: Q09013-10) [UniParc]FASTAAdd to basket
Also known as: DMPK E

The sequence of this isoform differs from the canonical sequence as follows:
     534-535: AV → GP
     536-629: Missing.

Note: No experimental confirmation available.
Show »
Length:535
Mass (Da):59,804
Checksum:i9A08CEA02FAE8828
GO
Isoform 6 (identifier: Q09013-12) [UniParc]FASTAAdd to basket
Also known as: DMPK F

The sequence of this isoform differs from the canonical sequence as follows:
     378-382: Missing.
     534-535: AV → GP
     536-629: Missing.

Note: No experimental confirmation available.
Show »
Length:530
Mass (Da):59,446
Checksum:i5E41498FDA6C22D4
GO
Isoform 7 (identifier: Q09013-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: MSAEVRLRRL...DKYVADFLQW → MGGHFWPPEP...PRFFSPTTPP

Show »
Length:639
Mass (Da):70,371
Checksum:i69A831604F7F8D38
GO
Isoform 8 (identifier: Q09013-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):59,334
Checksum:iA7BB715CB845055C
GO
Isoform 9 (identifier: Q09013-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: MSAEVRLRRL...DKYVADFLQW → MGGHFWPPEP...PRFFSPTTPP
     226-275: Missing.

Note: No experimental confirmation available.
Show »
Length:589
Mass (Da):65,076
Checksum:i2558F658CFA1FCE1
GO
Isoform 10 (identifier: Q09013-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: MSAEVRLRRL...DKYVADFLQW → MGGHFWPPEP...PRFFSPTTPP
     378-382: Missing.

Note: No experimental confirmation available.
Show »
Length:634
Mass (Da):70,014
Checksum:i94F39ADE9A8F4AFC
GO
Isoform 11 (identifier: Q09013-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: MSAEVRLRRL...DKYVADFLQW → MGGHFWPPEP...PRFFSPTTPP
     550-579: Missing.

Note: No experimental confirmation available.
Show »
Length:609
Mass (Da):67,263
Checksum:i58A97059F9590719
GO
Isoform 12 (identifier: Q09013-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: MSAEVRLRRL...DKYVADFLQW → MGGHFWPPEP...PRFFSPTTPP
     534-535: AV → GP
     536-629: Missing.

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):60,790
Checksum:iEF016FDBE3933553
GO

Sequence cautioni

The sequence AAA64884 differs from that shown. Reason: Frameshift at positions 56, 555 and 568.Curated
The sequence AAA87583 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti474A → P in AAB31800 (PubMed:8076686).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058334423L → V.4 PublicationsCorresponds to variant rs527221dbSNPEnsembl.1
Natural variantiVAR_040452428L → V in a lung small cell carcinoma sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0420981 – 89Missing in isoform 8. CuratedAdd BLAST89
Alternative sequenceiVSP_0420991 – 53MSAEV…DFLQW → MGGHFWPPEPYTVFMWGSPW EADSPRVKLRGREKGRQTEG GAFPLVSSALSGDPRFFSPT TPP in isoform 7, isoform 9, isoform 10, isoform 11 and isoform 12. 2 PublicationsAdd BLAST53
Alternative sequenceiVSP_042100226 – 275Missing in isoform 9. CuratedAdd BLAST50
Alternative sequenceiVSP_042101378 – 382Missing in isoform 2, isoform 4, isoform 6 and isoform 10. 3 Publications5
Alternative sequenceiVSP_042102534 – 535AV → GP in isoform 5, isoform 6 and isoform 12. Curated2
Alternative sequenceiVSP_042103536 – 629Missing in isoform 5, isoform 6 and isoform 12. CuratedAdd BLAST94
Alternative sequenceiVSP_042104550 – 629LDGPP…AARAP → MAPRPWLWASARWWGQAPCT AATCCSLPGSLGLAYRRRFP CSCSPLFCLVPPPWAALGWW PTPANSPQSGAAQEPPALPE P in isoform 3 and isoform 4. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_042105550 – 579Missing in isoform 11. CuratedAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M87312 mRNA. No translation available.
L19268 mRNA. Translation: AAA36206.1.
L19266 Genomic DNA. Translation: AAA36205.1.
L08835 Genomic DNA. Translation: AAC14449.1.
L08835 Genomic DNA. Translation: AAC14451.1.
L08835 Genomic DNA. Translation: AAC14448.1.
L08835 Genomic DNA. Translation: AAC14450.1.
L00727 Genomic DNA. Translation: AAA75235.1.
L00727 Genomic DNA. Translation: AAA75236.1.
L00727 Genomic DNA. Translation: AAA75237.1.
L00727 Genomic DNA. Translation: AAA75238.1.
L00727 Genomic DNA. Translation: AAA75239.1.
L00727 Genomic DNA. Translation: AAA75240.1.
S72883 mRNA. Translation: AAB31800.1.
HQ205626 Genomic DNA. Translation: ADP91337.1.
HQ205627 Genomic DNA. Translation: ADP91341.1.
HQ205628 Genomic DNA. Translation: ADP91345.1.
HQ205629 Genomic DNA. Translation: ADP91349.1.
HQ205630 Genomic DNA. Translation: ADP91353.1.
HQ205631 Genomic DNA. Translation: ADP91357.1.
HQ205632 Genomic DNA. Translation: ADP91361.1.
HQ205633 Genomic DNA. Translation: ADP91365.1.
HQ205634 Genomic DNA. Translation: ADP91369.1.
HQ205635 Genomic DNA. Translation: ADP91373.1.
HQ205636 Genomic DNA. Translation: ADP91377.1.
HQ205637 Genomic DNA. Translation: ADP91381.1.
HQ205638 Genomic DNA. Translation: ADP91385.1.
HQ205639 Genomic DNA. Translation: ADP91389.1.
HQ205640 Genomic DNA. Translation: ADP91393.1.
HQ205641 Genomic DNA. Translation: ADP91397.1.
HQ205642 Genomic DNA. Translation: ADP91401.1.
HQ205643 Genomic DNA. Translation: ADP91405.1.
HQ205644 Genomic DNA. Translation: ADP91409.1.
HQ205645 Genomic DNA. Translation: ADP91413.1.
HQ205646 Genomic DNA. Translation: ADP91417.1.
HQ205647 Genomic DNA. Translation: ADP91421.1.
HQ205648 Genomic DNA. Translation: ADP91425.1.
HQ205649 Genomic DNA. Translation: ADP91429.1.
HQ205650 Genomic DNA. Translation: ADP91433.1.
HQ205651 Genomic DNA. Translation: ADP91437.1.
HQ205652 Genomic DNA. Translation: ADP91441.1.
HQ205653 Genomic DNA. Translation: ADP91445.1.
HQ205654 Genomic DNA. Translation: ADP91449.1.
HQ205655 Genomic DNA. Translation: ADP91453.1.
HQ205656 Genomic DNA. Translation: ADP91457.1.
HQ205657 Genomic DNA. Translation: ADP91461.1.
HQ205658 Genomic DNA. Translation: ADP91465.1.
HQ205659 Genomic DNA. Translation: ADP91469.1.
HQ205660 Genomic DNA. Translation: ADP91473.1.
HQ205661 Genomic DNA. Translation: ADP91477.1.
HQ205662 Genomic DNA. Translation: ADP91481.1.
HQ205663 Genomic DNA. Translation: ADP91485.1.
HQ205664 Genomic DNA. Translation: ADP91489.1.
HQ205665 Genomic DNA. Translation: ADP91493.1.
KJ534827 mRNA. Translation: AHW56467.1.
CH471126 Genomic DNA. Translation: EAW57380.1.
CH471126 Genomic DNA. Translation: EAW57382.1.
BC062553 mRNA. Translation: AAH62553.1.
M94203 mRNA. Translation: AAA64884.1. Frameshift.
U46546 mRNA. Translation: AAA87583.1. Sequence problems.
CCDSiCCDS12674.1. [Q09013-9]
CCDS46117.1. [Q09013-15]
CCDS46118.1. [Q09013-11]
CCDS46119.1. [Q09013-1]
CCDS74400.1. [Q09013-12]
PIRiB49364.
RefSeqiNP_001075029.1. NM_001081560.2. [Q09013-11]
NP_001075031.1. NM_001081562.2. [Q09013-15]
NP_001075032.1. NM_001081563.2. [Q09013-1]
NP_001275694.1. NM_001288765.1.
NP_004400.4. NM_004409.4. [Q09013-9]
UniGeneiHs.631596.

Genome annotation databases

EnsembliENST00000291270; ENSP00000291270; ENSG00000104936. [Q09013-9]
ENST00000343373; ENSP00000345997; ENSG00000104936. [Q09013-1]
ENST00000354227; ENSP00000346168; ENSG00000104936. [Q09013-12]
ENST00000447742; ENSP00000413417; ENSG00000104936. [Q09013-11]
ENST00000458663; ENSP00000401753; ENSG00000104936. [Q09013-15]
ENST00000618091; ENSP00000482746; ENSG00000104936. [Q09013-15]
GeneIDi1760.
KEGGihsa:1760.
UCSCiuc002pdd.3. human. [Q09013-9]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M87312 mRNA. No translation available.
L19268 mRNA. Translation: AAA36206.1.
L19266 Genomic DNA. Translation: AAA36205.1.
L08835 Genomic DNA. Translation: AAC14449.1.
L08835 Genomic DNA. Translation: AAC14451.1.
L08835 Genomic DNA. Translation: AAC14448.1.
L08835 Genomic DNA. Translation: AAC14450.1.
L00727 Genomic DNA. Translation: AAA75235.1.
L00727 Genomic DNA. Translation: AAA75236.1.
L00727 Genomic DNA. Translation: AAA75237.1.
L00727 Genomic DNA. Translation: AAA75238.1.
L00727 Genomic DNA. Translation: AAA75239.1.
L00727 Genomic DNA. Translation: AAA75240.1.
S72883 mRNA. Translation: AAB31800.1.
HQ205626 Genomic DNA. Translation: ADP91337.1.
HQ205627 Genomic DNA. Translation: ADP91341.1.
HQ205628 Genomic DNA. Translation: ADP91345.1.
HQ205629 Genomic DNA. Translation: ADP91349.1.
HQ205630 Genomic DNA. Translation: ADP91353.1.
HQ205631 Genomic DNA. Translation: ADP91357.1.
HQ205632 Genomic DNA. Translation: ADP91361.1.
HQ205633 Genomic DNA. Translation: ADP91365.1.
HQ205634 Genomic DNA. Translation: ADP91369.1.
HQ205635 Genomic DNA. Translation: ADP91373.1.
HQ205636 Genomic DNA. Translation: ADP91377.1.
HQ205637 Genomic DNA. Translation: ADP91381.1.
HQ205638 Genomic DNA. Translation: ADP91385.1.
HQ205639 Genomic DNA. Translation: ADP91389.1.
HQ205640 Genomic DNA. Translation: ADP91393.1.
HQ205641 Genomic DNA. Translation: ADP91397.1.
HQ205642 Genomic DNA. Translation: ADP91401.1.
HQ205643 Genomic DNA. Translation: ADP91405.1.
HQ205644 Genomic DNA. Translation: ADP91409.1.
HQ205645 Genomic DNA. Translation: ADP91413.1.
HQ205646 Genomic DNA. Translation: ADP91417.1.
HQ205647 Genomic DNA. Translation: ADP91421.1.
HQ205648 Genomic DNA. Translation: ADP91425.1.
HQ205649 Genomic DNA. Translation: ADP91429.1.
HQ205650 Genomic DNA. Translation: ADP91433.1.
HQ205651 Genomic DNA. Translation: ADP91437.1.
HQ205652 Genomic DNA. Translation: ADP91441.1.
HQ205653 Genomic DNA. Translation: ADP91445.1.
HQ205654 Genomic DNA. Translation: ADP91449.1.
HQ205655 Genomic DNA. Translation: ADP91453.1.
HQ205656 Genomic DNA. Translation: ADP91457.1.
HQ205657 Genomic DNA. Translation: ADP91461.1.
HQ205658 Genomic DNA. Translation: ADP91465.1.
HQ205659 Genomic DNA. Translation: ADP91469.1.
HQ205660 Genomic DNA. Translation: ADP91473.1.
HQ205661 Genomic DNA. Translation: ADP91477.1.
HQ205662 Genomic DNA. Translation: ADP91481.1.
HQ205663 Genomic DNA. Translation: ADP91485.1.
HQ205664 Genomic DNA. Translation: ADP91489.1.
HQ205665 Genomic DNA. Translation: ADP91493.1.
KJ534827 mRNA. Translation: AHW56467.1.
CH471126 Genomic DNA. Translation: EAW57380.1.
CH471126 Genomic DNA. Translation: EAW57382.1.
BC062553 mRNA. Translation: AAH62553.1.
M94203 mRNA. Translation: AAA64884.1. Frameshift.
U46546 mRNA. Translation: AAA87583.1. Sequence problems.
CCDSiCCDS12674.1. [Q09013-9]
CCDS46117.1. [Q09013-15]
CCDS46118.1. [Q09013-11]
CCDS46119.1. [Q09013-1]
CCDS74400.1. [Q09013-12]
PIRiB49364.
RefSeqiNP_001075029.1. NM_001081560.2. [Q09013-11]
NP_001075031.1. NM_001081562.2. [Q09013-15]
NP_001075032.1. NM_001081563.2. [Q09013-1]
NP_001275694.1. NM_001288765.1.
NP_004400.4. NM_004409.4. [Q09013-9]
UniGeneiHs.631596.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WT6X-ray1.60A/B/D460-537[»]
2VD5X-ray2.80A/B11-420[»]
ProteinModelPortaliQ09013.
SMRiQ09013.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108100. 14 interactors.
IntActiQ09013. 15 interactors.
MINTiMINT-195910.
STRINGi9606.ENSP00000345997.

Chemistry databases

BindingDBiQ09013.
ChEMBLiCHEMBL5320.
GuidetoPHARMACOLOGYi1505.

PTM databases

iPTMnetiQ09013.
PhosphoSitePlusiQ09013.

Polymorphism and mutation databases

BioMutaiDMPK.
DMDMi363548519.

2D gel databases

REPRODUCTION-2DPAGEQ09013.

Proteomic databases

PaxDbiQ09013.
PeptideAtlasiQ09013.
PRIDEiQ09013.
TopDownProteomicsiQ09013-11. [Q09013-11]

Protocols and materials databases

DNASUi1760.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291270; ENSP00000291270; ENSG00000104936. [Q09013-9]
ENST00000343373; ENSP00000345997; ENSG00000104936. [Q09013-1]
ENST00000354227; ENSP00000346168; ENSG00000104936. [Q09013-12]
ENST00000447742; ENSP00000413417; ENSG00000104936. [Q09013-11]
ENST00000458663; ENSP00000401753; ENSG00000104936. [Q09013-15]
ENST00000618091; ENSP00000482746; ENSG00000104936. [Q09013-15]
GeneIDi1760.
KEGGihsa:1760.
UCSCiuc002pdd.3. human. [Q09013-9]

Organism-specific databases

CTDi1760.
DisGeNETi1760.
GeneCardsiDMPK.
GeneReviewsiDMPK.
H-InvDBHIX0137522.
HGNCiHGNC:2933. DMPK.
HPAiHPA007164.
HPA008905.
MalaCardsiDMPK.
MIMi160900. phenotype.
605377. gene.
neXtProtiNX_Q09013.
OpenTargetsiENSG00000104936.
Orphaneti273. Steinert myotonic dystrophy.
PharmGKBiPA27380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IT50. Eukaryota.
ENOG410YFQZ. LUCA.
GeneTreeiENSGT00760000118994.
HOGENOMiHOG000233033.
HOVERGENiHBG107817.
InParanoidiQ09013.
KOiK08788.
OMAiFLQWVEP.
OrthoDBiEOG091G09EX.
TreeFamiTF105337.

Enzyme and pathway databases

BioCyciZFISH:HS02657-MONOMER.
BRENDAi2.7.11.1. 2681.
ReactomeiR-HSA-5578775. Ion homeostasis.
SignaLinkiQ09013.
SIGNORiQ09013.

Miscellaneous databases

ChiTaRSiDMPK. human.
EvolutionaryTraceiQ09013.
GeneWikiiMyotonin-protein_kinase.
GenomeRNAii1760.
PROiQ09013.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104936.
CleanExiHS_DMPK.
ExpressionAtlasiQ09013. baseline and differential.
GenevisibleiQ09013. HS.

Family and domain databases

InterProiIPR000961. AGC-kinase_C.
IPR011009. Kinase-like_dom.
IPR014930. Myotonic_dystrophy_kinase_coil.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF08826. DMPK_coil. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
ProDomiPD011252. Myotonic_dystrophy_kinase_coil. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00133. S_TK_X. 1 hit.
SM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51285. AGC_KINASE_CTER. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDMPK_HUMAN
AccessioniPrimary (citable) accession number: Q09013
Secondary accession number(s): E5KR08, Q16205, Q6P5Z6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 14, 2011
Last modified: November 2, 2016
This is version 177 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.